Free Genetic Testing!

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Free Genetic Testing!

Postby Connie Lee » Fri Apr 03, 2015 12:07 pm

Thanks to generous donors, Angioma Alliance is now able to offer free clinical diagnostic genetic testing to cavernous angioma patients in America and Canada to determine whether a change in the CCM1, CCM2, or CCM3 gene is causing their illness.

As part of our ongoing Genetic Testing Initiative, Angioma Alliance will begin offering free genetic testing to Americans and Canadians who:

• have multiple cavernous angiomas in the brain and/or spinal cord that can't be explained by a developmental venous anomaly or by brain radiation for cancer
• have been denied insurance or Medicare coverage for genetic testing or who do not have insurance, and
• are the first in their extended family to receive cavernous angioma genetic testing.

If you believe you qualify and are interested in testing, please register in the Angioma Alliance International Patient Registry at http://www.angioma.org/registry. If you are already registered, please update your registration by answering the interest question. Also, please read the applicable page on the Angioma Alliance website: http://tinyurl.com/FreeCCMTesting.

We will contact you via email with an enrollment package once we know of your interest through the registry. The program is first come/first serve for those who qualify and will run while we have funding. Genetic tests are processed in batches of 20 so there may be some delay between enrollment and receiving results. When testing is complete, results will be sent to your doctor.

Genetic testing is important. In addition to assisting in identifying other family members who may need monitoring, genetic testing can tell you whether you have a more severe form of the illness caused by a mutation of the CCM3 gene. If you do, you should be receiving extra medical services. Genetic testing will also be a requirement for participation in clinical drug trials and may be required later when medications become available to reduce hemorrhage risk and lesion proliferation.
Connie Lee
President and CEO, Angioma Alliance
17-year-old daughter with CCM3 mutation who has had 4 brain surgeries, T2-L3 spinal fusion
To support Angioma Alliance, visit http://www.Angioma.org/Donate.
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Connie Lee
Founder, Angioma Alliance
 
Posts: 434
Joined: Sat Sep 25, 2010 2:41 pm
Location: Norfolk, Virginia

Re: Free Genetic Testing!

Postby KKMOMMA1 » Mon May 04, 2015 4:45 pm

Would this be for kids as well? We just met with a genetics doctor for the 1st time this past Friday. We are starting the process of requesting authorization to get the testing done. She mentioned that my insurance is known for denying this type of testing.

My daughter was diagnosed last summer (we found them by accident), she is 8, has no symptoms but 1 keeps increasing in size so she is being monitored by MRI every 3 months. She has at least 6 CCM's. She is the 1st in either family that we know of.
KKMOMMA1
 
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Re: Free Genetic Testing!

Postby Connie Lee » Thu May 07, 2015 10:26 pm

Yes, we are testing children as well. There are two caveats for kids. First, we are using saliva testing. To do this, a person needs to spit in a tube enough to produce two tablespoons of saliva. For adults, it takes 5-10 minutes of spitting to accomplish it. If she's old enough to be able to cooperate, she can participate.

Second, if a child is tested, we ask that the parents agree to be tested when the child's result comes back. Testing for a parent would be about $250 and we'll help pay if the family can't afford it.
Connie Lee
President and CEO, Angioma Alliance
17-year-old daughter with CCM3 mutation who has had 4 brain surgeries, T2-L3 spinal fusion
To support Angioma Alliance, visit http://www.Angioma.org/Donate.
User avatar
Connie Lee
Founder, Angioma Alliance
 
Posts: 434
Joined: Sat Sep 25, 2010 2:41 pm
Location: Norfolk, Virginia


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